Mitochondrial myopathy-lactic acidosis-deafness syndrome

Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 9

HPO ID Term Frequency
HP:0000407 Sensorineural hearing impairment Very frequent (99-80%)
HP:0001942 Metabolic acidosis Very frequent (99-80%)
HP:0003198 Myopathy Very frequent (99-80%)
HP:0003202 Skeletal muscle atrophy Very frequent (99-80%)
HP:0003348 Hyperalaninemia Very frequent (99-80%)
HP:0003457 EMG abnormality Very frequent (99-80%)
HP:0003737 Mitochondrial myopathy Very frequent (99-80%)
HP:0004320 Vaginal fistula Very frequent (99-80%)
HP:0001250 Seizures Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID